PSMB8 gene related symptoms and diseases
All the information presented here about the PSMB8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PSMB8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Uncommon - Between 30% and 50% cases |
| Skin rash | Uncommon - Between 30% and 50% cases |
| Erythema nodosum | Uncommon - Between 30% and 50% cases |
| Clubbing of fingers | Uncommon - Between 30% and 50% cases |
| Hepatomegaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PSMB8 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Microcytic anemia
- Elevated erythrocyte sedimentation rate
- Increased antibody level in blood
- Lipodystrophy
- Thick lower lip vermilion
- Cardiomegaly
- Prominent nose
- Macroglossia
And 66 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PSMB8 gene
Here you will find a list of rare diseases related to the PSMB8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CANDLE SYNDROME
Alternate names
CANDLE SYNDROME Is also known as chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Description
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and is characterized by early-onset recurrent fever, swollen violaceous eyelids, progressive lipodystrophy, arthralgia, purpuric skin lesions and delayed physical development.
More info about CANDLE SYNDROME
SOURCES: ORPHANET
NAKAJO-NISHIMURA SYNDROME
Alternate names
NAKAJO-NISHIMURA SYNDROME Is also known as nns, secondary hypertrophic osteoperiostosis with pernio, amyotrophy-fat tissue anomaly syndrome
Description
Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.
Most common symptoms of NAKAJO-NISHIMURA SYNDROME
- Muscle weakness
- Hepatomegaly
- Fever
- Skeletal muscle atrophy
- Respiratory insufficiency
More info about NAKAJO-NISHIMURA SYNDROME
SOURCES: ORPHANET
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1
Alternate names
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, candle, joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy, autoinflammation, lipodystrophy, and dermatosis syndrome, n
Description
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions.
Most common symptoms of PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1
- Intellectual disability
- Seizures
- Short stature
- Failure to thrive
- Muscle weakness
More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1
JMP SYNDROME
Alternate names
JMP SYNDROME Is also known as joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome
Description
Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature.
More info about JMP SYNDROME
SOURCES: ORPHANET
Search interest in PSMB8
Potential gene panels for PSMB8 gene
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Partial Lipodystrophy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1
More info about this panel United States.
Comprehensive Lipodystrophy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panel United States.
Comprehensive Lipodystrophy Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panel United States.
Partial Lipodystrophy Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1
More info about this panel United States.
PSMB8 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PSMB8 gene.
More info about this panel Germany.
Autoinflammation, lipodystrophy and dermatosis syndrome (sequence analysis of PSMB8 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PSMB8 gene.
More info about this panel Portugal.
Lipodystrophies (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panel Portugal.
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panel Portugal.
Lipodystrophies (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panel Portugal.
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panel Portugal.
Periodic Fever Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Periodic Fever Syndromes Sequencing Panel with CNV Detection that also includes the following genes: TNFAIP3 TNFRSF1A LPIN2 IL36RN NLRP3 CARD14 NLRP12 ELANE NOD2 MEFV
More info about this panel United States.
CANDLE Syndrome via PSMB8 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PSMB8 gene.
More info about this panel United States.
PSMB8 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the PSMB8 gene.
More info about this panel Netherlands.
Autoinflammatory panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2
More info about this panel Netherlands.
Autoinflammation, lipodystrophy, and dermatosis syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PSMB8 gene.
More info about this panel Germany.
Single gene testing PSMB8 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PSMB8 gene.
More info about this panel Germany.
Autoinflammatory diseases Panel Panel
Germany.
By CeGaT GmbH Autoinflammatory diseases Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 CARD14 NLRP12 SLC29A3 HFE
More info about this panel Germany.
Invitae Periodic Fever Syndromes Panel Panel
United States.
By Invitae Invitae Periodic Fever Syndromes Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 TRNT1 ADA2 NLRP12 ELANE MEFV MVK
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Autoinflammatory Syndromes Panel Panel
United States.
By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2
More info about this panel United States.
PSMB8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PSMB8 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 MLIP CIDEC AGPAT2 FOS AKT2 LIPE
More info about this panel Spain.
Autoinflammation, lipodystrophy, and dermatosis syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the PSMB8 gene.
More info about this panel Germany.
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